-
Koltowska, K, Paterson, S, Bower, NI, Baillie, GJ, Lagendijk, AK, Astin, JW, Chen, H, Francois, M, Crosier, PS, Taft, RJ, et al.
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish.
Genes & Development
29(15)
:
1618 -1630
2015
view publication
-
Helman, G, Simons, C, Griffin, L, Pizzino, A, Bloom, M, Taft, R, Antonellis, A, Hou, YM, Vanderver, A.
Early onset epileptic encephalopathy and deficient myelination as a result of autosomal recessive mutations in the AARS gene (S22.007).
Neurology
84(14_supplement)
:
2015
view publication
-
Parikh, S, Bernard, G, Leventer, RJ, van der Knaap, MS, van Hove, J, Pizzino, A, McNeill, NH, Helman, G, Simons, C, Schmidt, JL, et al.
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
Molecular Genetics and Metabolism
114(4)
:
501 -515
2015
view publication
-
Simons, C, Griffin, LB, Helman, G, Golas, G, Pizzino, A, Bloom, M, Murphy, JLP, Crawford, J, Evans, SH, Topper, S, et al.
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect.
American Journal of Human Genetics
96(4)
:
675 -681
2015
view publication
-
Simons, C, Rash, LD, Crawford, J, Ma, L, Cristofori-Armstrong, B, Miller, D, Ru, K, Baillie, GJ, Alanay, Y, Jacquinet, A, et al.
Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
Nature Genetics
47(3)
:
304 -304
2015
view publication